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Permanent Neonatal Diabetes Caused by Creation of an Ectopic Splice Site within the INS Gene
BACKGROUND: The aim of this study was to characterize the genetic etiology in a patient who presented with permanent neonatal diabetes at 2 months of age. METHODOLOGY/PRINCIPAL FINDINGS: Regulatory elements and coding exons 2 and 3 of the INS gene were amplified and sequenced from genomic and comple...
Tallennettuna:
| Päätekijät: | , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Public Library of Science
2012
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3250427/ https://ncbi.nlm.nih.gov/pubmed/22235272 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0029205 |
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